Canonical Allele Identifier: CA916084119

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110771_11110772insATGCGAAGATGCGAAG , CM000681.2:g.11110771_11110772insATGCGAAGATGCGAAG	GRCh38
NC_000019.9:g.11221447_11221448insATGCGAAGATGCGAAG , CM000681.1:g.11221447_11221448insATGCGAAGATGCGAAG	GRCh37
NC_000019.8:g.11082447_11082448insATGCGAAGATGCGAAG	NCBI36
NG_009060.1:g.26391_26392insATGCGAAGATGCGAAG , LRG_274:g.26391_26392insATGCGAAGATGCGAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1318_1318+1insATGCGAAGATGCGAAG	ENSP00000252444.6:p.Ile441AlafsTer8
ENST00000559340.2:c.1060_1060+1insATGCGAAGATGCGAAG	ENSP00000453696.2:p.Ile355AlafsTer8
ENST00000560467.2:c.941-743_941-742insATGCGAAGATGCGAAG	ENSP00000453513.2:n.941-743_941-742insATGCGAAGATGCGAAG
ENST00000558518.6:c.1060_1060+1insATGCGAAGATGCGAAG MANE Select	ENSP00000454071.1:p.Ile355AlafsTer8
ENST00000252444.9:c.1314_1314+1insATGCGAAGATGCGAAG
ENST00000455727.6:c.556_556+1insATGCGAAGATGCGAAG	ENSP00000397829.2:p.Ile187AlafsTer8
ENST00000535915.5:c.937_937+1insATGCGAAGATGCGAAG	ENSP00000440520.1:p.Ile314AlafsTer8
ENST00000545707.5:c.679_679+1insATGCGAAGATGCGAAG	ENSP00000437639.1:p.Ile228AlafsTer8
ENST00000557933.5:c.1060_1060+1insATGCGAAGATGCGAAG	ENSP00000453557.1:p.Ile355AlafsTer8
ENST00000558013.5:c.1060_1060+1insATGCGAAGATGCGAAG	ENSP00000453346.1:p.Ile355AlafsTer8
ENST00000558518.5:c.1060_1060+1insATGCGAAGATGCGAAG	ENSP00000454071.1:p.Ile355AlafsTer8
ENST00000560173.1:n.59_59+1insATGCGAAGATGCGAAG
ENST00000560467.1:c.541-743_541-742insATGCGAAGATGCGAAG
NM_000527.4:c.1060_1060+1insATGCGAAGATGCGAAG , LRG_274t1:c.1060_1060+1insATGCGAAGATGCGAAG	NP_000518.1:p.Ile355AlafsTer8
NM_001195798.1:c.1060_1060+1insATGCGAAGATGCGAAG	NP_001182727.1:p.Ile355AlafsTer8
NM_001195799.1:c.937_937+1insATGCGAAGATGCGAAG	NP_001182728.1:p.Ile314AlafsTer8
NM_001195800.1:c.556_556+1insATGCGAAGATGCGAAG	NP_001182729.1:p.Ile187AlafsTer8
NM_001195803.1:c.679_679+1insATGCGAAGATGCGAAG	NP_001182732.1:p.Ile228AlafsTer8
XM_011528010.1:c.1060_1060+1insATGCGAAGATGCGAAG	XP_011526312.1:p.Ile355AlafsTer8
XM_011528011.1:c.679_679+1insATGCGAAGATGCGAAG	XP_011526313.1:p.Ile228AlafsTer8
XR_244074.2:n.1210_1210+1insATGCGAAGATGCGAAG
XM_011528010.2:c.1060_1060+1insATGCGAAGATGCGAAG	XP_011526312.1:p.Ile355AlafsTer8
XR_001753685.2:n.1177_1177+1insATGCGAAGATGCGAAG
XR_001753686.2:n.1177_1177+1insATGCGAAGATGCGAAG
NM_000527.5:c.1060_1060+1insATGCGAAGATGCGAAG MANE Select	NP_000518.1:p.Ile355AlafsTer8
NM_001195798.2:c.1060_1060+1insATGCGAAGATGCGAAG	NP_001182727.1:p.Ile355AlafsTer8
NM_001195799.2:c.937_937+1insATGCGAAGATGCGAAG	NP_001182728.1:p.Ile314AlafsTer8
NM_001195800.2:c.556_556+1insATGCGAAGATGCGAAG	NP_001182729.1:p.Ile187AlafsTer8
NM_001195803.2:c.679_679+1insATGCGAAGATGCGAAG	NP_001182732.1:p.Ile228AlafsTer8